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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PHIP Gene

protein-coding   GIFtS: 52
GCID: GC06M079644

Pleckstrin Homology Domain Interacting Protein


(Previous symbol: WDR11)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Pleckstrin Homology Domain Interacting Protein1 2     BRWD22
WDR111 2 3     DCAF142
DDB1 And CUL4 Associated Factor 141 2     ndrp2
IRS-1 PH Domain-Binding Protein2 3     PH-Interacting Protein2
WD Repeat-Containing Protein 112 3     

External Ids:    HGNC: 156731   Entrez Gene: 550232   Ensembl: ENSG000001462477   OMIM: 6128705   UniProtKB: Q8WWQ03   

Export aliases for PHIP gene to outside databases

Previous GC identifers: GC06M079593 GC06M079645 GC06M079707 GC06M076837


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PHIP Gene:
PHIP binds the pleckstrin homology (PH) domain of insulin receptor substrate-1 (IRS1; MIM 147545), modulates
insulin signaling, and plays a role in pancreatic beta cell growth and survival (Farhang-Fallah et al., 2000
(PubMed 11018022); Podcheko et al., 2007 (PubMed 17636024)).(supplied by OMIM, Jun 2009)

GeneCards Summary for PHIP Gene: 
PHIP (pleckstrin homology domain interacting protein) is a protein-coding gene. Diseases associated with PHIP include legg-calve-perthes disease, and pancreatitis. GO annotations related to this gene include histone acetyl-lysine binding and insulin receptor binding. An important paralog of this gene is BRWD1.

UniProtKB/Swiss-Prot: PHIP_HUMAN, Q8WWQ0
Function: Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell
proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1
phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007299.13  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PHIP gene promoter:
         AP-1   ATF-2   c-Jun   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHIP promoter sequence
   Search SABiosciences Chromatin IP Primers for PHIP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHIP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q14   Ensembl cytogenetic band:  6q14.1   HGNC cytogenetic band: 6q14

PHIP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHIP gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M079644:  view genomic region     (about GC identifiers)

Start:
79,644,136 bp from pter      End:
79,788,011 bp from pter
Size:
143,876 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PHIP_HUMAN, Q8WWQ0 (See protein sequence)
Recommended Name: PH-interacting protein  
Size: 1821 amino acids; 206689 Da
Subunit: Interacts with IRS1 and IRS2 (By similarity). Interacts (via bromo domain) with acetylated lysine
residues on histone H1.4, histone H3 and H4 (in vitro)
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=AAH21905.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAC11417.1; Type=Frameshift; Positions=1648;
1 PDB 3D structure from and Proteopedia for PHIP:
3MB3 (3D)    
Secondary accessions: B2RPK4 Q05CQ9 Q5VVH4 Q66I29 Q69YV1 Q8NBZ5 Q96H52 Q96ME2 Q9H261

Explore the universe of human proteins at neXtProt for PHIP: NX_Q8WWQ0

Explore proteomics data for PHIP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WWQ0

  • PHIP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PHIP Protein Expression
    REFSEQ proteins: NP_060404.3  
    ENSEMBL proteins: 
     ENSP00000275034  

    Human Recombinant Protein Products for PHIP: 
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for PHIP
    GenScript Custom Purified and Recombinant Proteins Services for PHIP
    Novus Biologicals PHIP Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PHIP 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus ISS--

    PHIP for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for PHIP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    DCAF: DDB1 and CUL4 associated factors
    WDR: WD repeat domain containing

    5/7 InterPro protein domains (see all 7):
     IPR019775 WD40_repeat_CS
     IPR011047 Quinonprotein_ADH-like_supfam
     IPR001680 WD40_repeat
     IPR018359 Bromodomain_CS
     IPR001487 Bromodomain

    Graphical View of Domain Structure for InterPro Entry Q8WWQ0

    ProtoNet protein and cluster: Q8WWQ0

    1 Blocks protein domain: IPB001487 Bromodomain signature

    UniProtKB/Swiss-Prot: PHIP_HUMAN, Q8WWQ0
    Similarity: Contains 2 bromo domains
    Similarity: Contains 8 WD repeats


    PHIP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PHIP_HUMAN, Q8WWQ0
    Function: Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell
    proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1
    phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005158insulin receptor binding NAS11018022
    GO:0005515protein binding IPI11018022
    GO:0070577histone acetyl-lysine binding IDA--
         
    PHIP for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Phip):
     adipose tissue  cardiovascular system  cellular  growth/size  homeostasis/metabolism 
     liver/biliary system  mortality/aging  muscle  respiratory system 

    PHIP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PHIP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PHIP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHIP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PHIP 

    miRNA
    Products:
        
    miRTarBase miRNAs that target PHIP:
    hsa-mir-1 (MIRT005277)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHIP
    8/178 QIAGEN miScript miRNA Assays for microRNAs that regulate PHIP (see all 178):
    hsa-miR-411* hsa-miR-579 hsa-miR-106a hsa-miR-605 hsa-miR-138-2* hsa-miR-519a hsa-miR-3916 hsa-miR-298
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PHIP

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of PHIP

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHIP

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    Search LifeMap BioReagents cell lines for PHIP
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHIP


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PHIP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/15 Interacting proteins for PHIP (Q8WWQ02, 3 ENSP000002750344) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STMN4Q9H1692, 3, ENSP000003425384MINT-65452 I2D: score=5 STRING: ENSP00000342538
    ENSG00000258947Q135093I2D: score=2 
    TUBB3Q135093I2D: score=2 
    IRS2Q9Y4H23, ENSP000003650164I2D: score=1 STRING: ENSP00000365016
    DDB1Q165313, ENSP000003017644I2D: score=1 STRING: ENSP00000301764
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001932regulation of protein phosphorylation ISS--
    GO:0006606protein import into nucleus IEA--
    GO:0007010cytoskeleton organization IMP--
    GO:0008284positive regulation of cell proliferation ISS--
    GO:0008286insulin receptor signaling pathway NAS11018022

    PHIP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PHIP

    Search CenterWatch for drugs/clinical trials and news about PHIP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PHIP gene: 
    NM_017934.5  

    Unigene Clusters for PHIP:

    Pleckstrin homology domain interacting protein
    Hs.511817  [show with all ESTs], Hs.606356  [show with all ESTs]
    Unigene Representative Sequences: NM_017934, BC036479
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000275034(uc003piq.3 uc003pir.3 uc011dyp.2) ENST00000479165(uc003pio.4)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHIP
    8/178 QIAGEN miScript miRNA Assays for microRNAs that regulate PHIP (see all 178):
    hsa-miR-411* hsa-miR-579 hsa-miR-106a hsa-miR-605 hsa-miR-138-2* hsa-miR-519a hsa-miR-3916 hsa-miR-298
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PHIP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PHIP
    Clone
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    OriGene clones in human, mouse for PHIP (see all 5)
    OriGene ORF clones in mouse, rat for PHIP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PHIP (NM_017934)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHIP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHIP
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PHIP
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PHIP
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PHIP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PHIP

    Additional mRNA sequence: BC036479.1 

    23 DOTS entries:

    DT.97858748  DT.444138  DT.97840245  DT.40311328  DT.101971611  DT.95170404  DT.97785958  DT.312165 
    DT.75124657  DT.65287333  DT.100822283  DT.91760815  DT.95227509  DT.100018230  DT.431427  DT.121387444 
    DT.121387525  DT.121387539  DT.40126062  DT.91747939  DT.99984478  DT.75177627  DT.92063679 

    24/340 AceView cDNA sequences (see all 340):

    BM977801 BM718690 BE046934 BU957054 BM833936 BF224151 BM832670 BQ006356 
    BE220575 W04550 AI494192 BM829034 AA853030 AA703383 AW770311 CB160995 
    CA843527 CR600369 BM785607 BU948973 CB178010 AA354392 CB852627 AA379329 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PHIP    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
    SP1:              -                       -                             -                                                                     
    SP2:                                      -                             -                                                                     
    SP3:                                                                    -                                                                     
    SP4:                                                                                                                                          


    ECgene alternative splicing isoforms for PHIP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PHIP expression in normal human tissues (normalized intensities)      PHIP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCACAGTGAT
    PHIP Expression
    About this image


    PHIP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             bone marrow cd34+   
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Umbilical Cord (Extraembryonic Tissues)
             stem cells (umbilical cord cd34+)   
     
     Ear (Sensory Organs)
             ear   
     
     Brain (Nervous System)
             superior temporal gyrus   

    See PHIP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PHIP

    SOURCE GeneReport for Unigene clusters: Hs.511817 Hs.606356

    UniProtKB/Swiss-Prot: PHIP_HUMAN, Q8WWQ0
    Tissue specificity: Expressed in myeloma and epidermoid carcinoma cell lines

        SABiosciences Expression via Pathway-Focused PCR Array including PHIP: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHIP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PHIP gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phip1 , 5 pleckstrin homology domain interacting protein1, 5 90.32(n)1
    94.95(a)1
      9 (45.18 cM)5
    839461  NM_001081216.11  NP_001074685.11 
     828661595 
    chicken
    (Gallus gallus)
    Aves PHIP1 pleckstrin homology domain interacting protein 81.75(n)
    88.32(a)
      421854  XM_003640997.1  XP_003641045.1 
    lizard
    (Anolis carolinensis)
    Reptilia PHIP6
    pleckstrin homology domain interacting protein
    82(a)
    1 ↔ 1
    1(199680100-199762047)
    zebrafish
    (Danio rerio)
    Actinopterygii phip1 pleckstrin homology domain interacting protein 64.48(n)
    70.54(a)
      569727  XM_693129.5  XP_698221.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta BRWD36
    BRWD3
    28(a)
    1 → many
    3R(20144741-20154341)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G494301 WD40/YVTN repeat and Bromo-WDR9-I-like domain-containing more 47.43(n)
    35.16(a)
      835003  NM_124320.2  NP_199754.2 


    ENSEMBL Gene Tree for PHIP (if available)
    TreeFam Gene Tree for PHIP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PHIP gene
    BRWD12  BRWD32  
    3 SIMAP similar genes for PHIP using alignment to 2 protein entries:     PHIP_HUMAN (see all proteins):
    BRWD3    BRWD1    POC1B

    PHIP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2841 SNPs in PHIP are shown (see all 2841)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362394
    A colorectal cancer sample4--see VAR_0362392 R I mis40--------
    VAR_0362384
    A colorectal cancer sample4--see VAR_0362382 V I mis40--------
    VAR_0346834
    ----see VAR_0346832 V G mis40--------
    rs1386224541,2
    --79643677(+) GCTTTC/TGACAT 1 -- ds50010--------
    rs1879639601,2
    --79643750(+) CTATTC/TACTTG 1 -- ds50010--------
    rs1406385631,2
    --79643757(+) CTTGAA/GCATTT 1 -- ds50010--------
    rs1153633951,2
    F--79643901(+) CTATCT/ATATAT 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1458051771,2
    --79643984(+) ACAGAC/TAGAAT 1 -- ds50010--------
    rs1384584151,2
    --79643990(+) AGAATA/GAGATT 1 -- ds50010--------
    rs1812680981,2
    --79644054(+) TGCTGC/TTGGAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PHIP (79644136 - 79788011 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PHIP:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2675407CNV Deletion23128226
    esv274137CNV Insertion20981092
    esv270820CNV Insertion20981092
    nsv819945CNV Loss19587683
    nsv518477CNV Gain19592680
    nsv830705CNV Gain17160897


    Human Gene Mutation Database (HGMD): PHIP
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612870    OMIM disorders: --

    4 diseases for PHIP:    About MalaCards
    legg-calve-perthes disease    pancreatitis    myeloma    melanoma

    1 disease from the University of Copenhagen DISEASES database for PHIP:
    Legg-Calve-Perthes Disease

    PHIP for disorders           About GeneDecksing


    Export disorders for PHIP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PHIP gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with PHIP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of PHIP, a novel insulin receptor substrate-1 pleckstrin homology domain interacting protein. (PubMed id 11018022)1, 2, 3 Farhang-Fallah J.... Rozakis-Adcock M. (2000)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The functional interactome landscape of the human hist one deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (2013)
    4. Histone recognition and large-scale structural analysis of the human bromodomain family. (PubMed id 22464331)2 Filippakopoulos P.... Knapp S. (2012)
    5. Pleckstrin homology domain-interacting protein (PHIP) as a marker and mediator of melanoma metastasis. (PubMed id 22511720)1 De Semir D....Kashani-Sabet M. (2012)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    7. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration. (PubMed id 21834987)2 Bai S.W.... Ridley A.J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55023 HGNC: 15673 AceView: PHIP Ensembl:ENSG00000146247 euGenes: HUgn55023
    ECgene: PHIP H-InvDB: PHIP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PHIP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PHIP gene:
    Search GeneIP for patents involving PHIP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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